Varaico: Literature-Extracted Genetic Variants

MMP17

95 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in...

Pfam Domains

PG_binding_1aa 45–105UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 132–295UCSCMatrixin

Hemopexinaa 336–379UCSCHemopexin

Hemopexinaa 385–428UCSCHemopexin

Hemopexinaa 431–477UCSCHemopexin

Hemopexinaa 479–523UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 17

HGNC Alias Symbol

MT4-MMP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016155.7

p.L78M

c.232C>A

Surrounding Variants

1 paper

NM_016155.7

p.L78_S79insFs

c.234_235insAA

1 paper

NM_016155.7

p.T74_Q75insGCC

c.220_224ins9

1 paper

NM_016155.7

p.D66A

c.197A>C

1 paper

NM_016155.7

p.A65_D66insGCT

c.193_197ins9

3 papers

NM_016155.7

p.P64_A65ins9

c.190_194ins27

1 paper

NM_016155.7

p.P64A

c.190C>G

1 paper

NM_016155.7

p.Y61F

c.182A>T

1 paper

NM_016155.7

p.F59_G60ins8

c.175_179ins24

4 papers

NM_016155.7

p.F59_G60ins9

c.175_179ins27

1 paper

NM_016155.7

p.T107S

c.319A>T

1 paper

NM_016155.7

p.T107S

c.320C>G

1 paper

NM_016155.7

p.R109H

c.326G>A